Condition: Episodic metabolic acidosis
rs867410737
in
ATP5F1D
gene and
Episodic metabolic acidosis
PMID 29478781
2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
rs372949028
in
TANGO2
gene and
Episodic metabolic acidosis
PMID 26805781
2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.